To confirm the HIF-1α-dependent regulation of 5-FU responsiveness and to further characterize the contribution of p53, we examined a second human gastric cancer cell line (MKN28), which carries a missense mutation in

In transfected cells or leukocytes from affected dogs, the missense change leads to a 75% decrease in sulfatase activity, providing a functional confirmation that the variant might be the NCL-causing mutation.

Since the shape of a protein depends on the specific arrangement of amino acids, even a single error amid a gene's very long stretch of DNA can cause the gene's protein product to become misshapen. researchers studied ways to reverse the functional effects of missense mutationsfor three genetic diseases: two severe inherited metabolic disorders (CBS deficiency and MTHFR deficiency) and one inherited cancer syndrome (Li-Fraumeini).